Incidental Mutation 'IGL02447:Pdcd5'
ID294012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd5
Ensembl Gene ENSMUSG00000030417
Gene Nameprogrammed cell death 5
SynonymsTfar19, 2200003D22Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.943) question?
Stock #IGL02447
Quality Score
Status
Chromosome7
Chromosomal Location35641982-35647521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35642685 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 166 (V166A)
Ref Sequence ENSEMBL: ENSMUSP00000113013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000118501] [ENSMUST00000120714] [ENSMUST00000190503]
Predicted Effect probably benign
Transcript: ENSMUST00000040844
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867

DomainStartEndE-ValueType
Blast:ANK 8 37 2e-8 BLAST
VPS9 264 380 1.92e-7 SMART
Blast:ANK 393 418 8e-9 BLAST
low complexity region 419 430 N/A INTRINSIC
ANK 462 491 8.65e-5 SMART
ANK 495 524 1.8e-2 SMART
ANK 528 558 2.45e-4 SMART
ANK 564 593 6.46e-4 SMART
low complexity region 638 658 N/A INTRINSIC
ANK 742 774 8.39e-3 SMART
ANK 775 804 5.93e-3 SMART
ANK 808 837 4.46e-7 SMART
ANK 841 870 2.81e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118501
AA Change: V87A

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113761
Gene: ENSMUSG00000030417
AA Change: V87A

DomainStartEndE-ValueType
Pfam:dsDNA_bind 9 113 9.6e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120714
AA Change: V166A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113013
Gene: ENSMUSG00000030417
AA Change: V166A

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
low complexity region 29 39 N/A INTRINSIC
low complexity region 56 64 N/A INTRINSIC
Pfam:dsDNA_bind 91 192 1.9e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151336
Predicted Effect probably benign
Transcript: ENSMUST00000190503
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867

DomainStartEndE-ValueType
Blast:ANK 8 37 2e-8 BLAST
VPS9 264 380 1.92e-7 SMART
Blast:ANK 393 418 7e-9 BLAST
low complexity region 419 430 N/A INTRINSIC
ANK 462 491 8.65e-5 SMART
ANK 495 524 1.8e-2 SMART
ANK 528 558 2.45e-4 SMART
ANK 564 593 6.46e-4 SMART
low complexity region 638 658 N/A INTRINSIC
ANK 687 719 8.39e-3 SMART
ANK 720 749 5.93e-3 SMART
ANK 753 782 4.46e-7 SMART
ANK 786 815 2.81e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,100,459 S73C probably damaging Het
Abhd18 T A 3: 40,933,773 F351I probably benign Het
Agfg1 T A 1: 82,882,223 probably benign Het
Antxr2 C T 5: 98,030,408 V48I possibly damaging Het
Bcl9l T C 9: 44,507,334 M823T probably benign Het
Card11 G A 5: 140,906,924 H129Y possibly damaging Het
Ccr1 A T 9: 123,963,716 V259E probably benign Het
Cdk13 G T 13: 17,772,416 P586T probably benign Het
Cep295 C T 9: 15,332,511 V1502I probably damaging Het
Csnk1g3 T C 18: 53,895,870 S32P probably benign Het
Dpysl4 G A 7: 139,098,600 R492Q probably damaging Het
Duox2 A G 2: 122,297,468 L78P probably damaging Het
Gm436 T A 4: 144,674,699 I72F probably benign Het
Gm7361 T C 5: 26,257,855 S32P probably benign Het
Grip1 T A 10: 120,020,071 V234E probably damaging Het
Herc1 A T 9: 66,497,328 I4477L possibly damaging Het
Il18r1 G A 1: 40,498,337 probably null Het
Itpkb A G 1: 180,421,354 probably benign Het
Jag2 T C 12: 112,912,612 Y799C probably damaging Het
Jak2 A G 19: 29,299,614 K857R probably damaging Het
Kbtbd12 A T 6: 88,618,694 S51R probably damaging Het
Kcnc2 T G 10: 112,455,946 D346E probably damaging Het
Kcnh1 T A 1: 192,224,916 M92K possibly damaging Het
Kcnk1 A G 8: 126,025,080 I142V probably damaging Het
Lsm11 T C 11: 45,937,364 N196D probably damaging Het
Mpeg1 G T 19: 12,462,792 C538F probably damaging Het
Nrap G A 19: 56,345,519 Q969* probably null Het
Nup205 T C 6: 35,227,576 probably null Het
Plcb2 A T 2: 118,713,155 I745N probably damaging Het
Ptprt T C 2: 162,278,107 T147A probably benign Het
Rbp3 A T 14: 33,954,503 D136V probably damaging Het
Ripor3 G T 2: 167,992,830 T247N probably damaging Het
Sgcd A C 11: 46,979,255 probably benign Het
Slc26a6 T C 9: 108,857,052 Y211H probably benign Het
Slc37a3 T A 6: 39,337,195 E494D probably benign Het
Smc5 T C 19: 23,257,492 E326G probably benign Het
Tctn2 T C 5: 124,615,253 noncoding transcript Het
Tk2 T A 8: 104,241,138 N93I probably damaging Het
Tmed6 A G 8: 107,065,608 F2L possibly damaging Het
Tox3 A G 8: 90,258,153 probably benign Het
Tspan9 T C 6: 127,964,438 Y237C probably benign Het
Ubqlnl A G 7: 104,148,649 L547P probably damaging Het
Uggt1 T C 1: 36,150,142 D1421G probably damaging Het
Unc80 T A 1: 66,503,544 I319K possibly damaging Het
Vac14 A G 8: 110,653,628 D441G probably benign Het
Vamp8 C T 6: 72,388,333 V5M probably damaging Het
Yeats2 T A 16: 20,193,679 H560Q probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp773 G T 7: 7,136,656 probably benign Het
Other mutations in Pdcd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02954:Pdcd5 APN 7 35643664 missense probably damaging 1.00
R0825:Pdcd5 UTSW 7 35646913 missense possibly damaging 0.75
R4426:Pdcd5 UTSW 7 35646180 missense possibly damaging 0.49
R4614:Pdcd5 UTSW 7 35647047 intron probably benign
R4860:Pdcd5 UTSW 7 35643710 missense possibly damaging 0.50
R4860:Pdcd5 UTSW 7 35643710 missense possibly damaging 0.50
R4984:Pdcd5 UTSW 7 35642685 missense probably damaging 1.00
R5249:Pdcd5 UTSW 7 35646996 intron probably benign
R5682:Pdcd5 UTSW 7 35647188 start gained probably benign
R6384:Pdcd5 UTSW 7 35646909 missense possibly damaging 0.60
R6787:Pdcd5 UTSW 7 35642638 missense probably damaging 0.99
Posted On2015-04-16